LDLRAP1 [The Human Chemical-Genetic Interaction Map Project]

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======= LDLRAP1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: LDLRAP1
  * **<color #00a2e8>Official Name</color>**: low density lipoprotein receptor adaptor protein 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=26119|26119]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q5SW96|Q5SW96]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=LDLRAP1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20LDLRAP1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605747|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Adapter protein (clathrin-associated sorting protein (CLASP)) required for efficient endocytosis of the LDL receptor (LDLR) in polarized cells such as hepatocytes and lymphocytes, but not in non-polarized cells (fibroblasts). May be required for LDL binding and internalization but not for receptor clustering in coated pits. May facilitate the endocytocis of LDLR and LDLR-LDL complexes from coated pits by stabilizing the interaction between the receptor and the structural components of the pits. May also be involved in the internalization of other LDLR family members. Binds to phosphoinositides, which regulate clathrin bud assembly at the cell surface. Required for trafficking of LRP2 to the endocytic recycling compartment which is necessary for LRP2 proteolysis, releasing a tail fragment which translocates to the nucleus and mediates transcriptional repression (By similarity). {ECO:0000250|UniProtKB:D3ZAR1, ECO:0000269|PubMed:15728179}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|PID|
|PTB|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|positive regulation of receptor-mediated endocytosis involved in cholesterol transport|
|positive regulation of low-density lipoprotein particle clearance|
|receptor-mediated endocytosis involved in cholesterol transport|
|regulation of receptor-mediated endocytosis involved in cholesterol transport|
|positive regulation of intracellular lipid transport|
|positive regulation of intracellular cholesterol transport|
|positive regulation of intracellular sterol transport|
|AP-1 adaptor complex binding|
|positive regulation of lipoprotein particle clearance|
|positive regulation of cholesterol metabolic process|
|neurofilament|
|regulation of intracellular sterol transport|
|regulation of intracellular lipid transport|
|regulation of intracellular cholesterol transport|
|AP-2 adaptor complex binding|
|clathrin adaptor activity|
|signaling adaptor activity|
|regulation of low-density lipoprotein particle clearance|
|intracellular cholesterol transport|
|intracellular sterol transport|
|amyloid precursor protein metabolic process|
|regulation of lipoprotein particle clearance|
|low-density lipoprotein particle receptor binding|
|receptor signaling complex adaptor activity|
|positive regulation of cholesterol transport|
|positive regulation of sterol transport|
|low-density lipoprotein particle clearance|
|positive regulation of steroid metabolic process|
|positive regulation of vascular smooth muscle cell proliferation|
|basal plasma membrane|
|intracellular lipid transport|
|clathrin binding|
|phosphotyrosine residue binding|
|plasma lipoprotein particle clearance|
|regulation of cholesterol transport|
|regulation of sterol transport|
|regulation of vascular smooth muscle cell proliferation|
|positive regulation of receptor-mediated endocytosis|
|clathrin-coated vesicle membrane|
|cytoplasmic side of plasma membrane|
|cholesterol transport|
|regulation of cholesterol metabolic process|
|positive regulation of lipid transport|
|receptor internalization|
|sterol transport|
|regulation of plasma lipoprotein particle levels|
|phosphatidylinositol-4,5-bisphosphate binding|
|cholesterol homeostasis|
|sterol homeostasis|
|amyloid-beta binding|
|positive regulation of lipid localization|
|positive regulation of smooth muscle cell proliferation|
|regulation of protein localization to plasma membrane|
|positive regulation of endocytosis|
|regulation of receptor-mediated endocytosis|
|receptor metabolic process|
|regulation of lipid transport|
|regulation of protein localization to cell periphery|
|regulation of steroid metabolic process|
|recycling endosome|
|cholesterol metabolic process|
|secondary alcohol metabolic process|
|lipid homeostasis|
|regulation of smooth muscle cell proliferation|
|sterol metabolic process|
|regulation of lipid localization|
|organic hydroxy compound transport|
|positive regulation of small molecule metabolic process|
|positive regulation of lipid metabolic process|
|regulation of protein localization to membrane|
|regulation of endocytosis|
|positive regulation of intracellular transport|
|regulation of protein binding|
|receptor-mediated endocytosis|
|early endosome|
|steroid metabolic process|
|axon|
|lipid transport|
|alcohol metabolic process|
|lipid localization|
|regulation of intracellular transport|
|regulation of binding|
|regulation of lipid metabolic process|
|regulation of small molecule metabolic process|
|organic hydroxy compound metabolic process|
|regulation of cellular protein localization|
|regulation of vesicle-mediated transport|
|endocytosis|
|import into cell|
|membrane organization|
|regulation of cellular localization|
|positive regulation of cell population proliferation|
|positive regulation of transport|
|cellular response to cytokine stimulus|
|regulation of protein localization|
|response to cytokine|
|chemical homeostasis|
|positive regulation of cellular component organization|
|lipid metabolic process|
|intracellular transport|
|regulation of cell population proliferation|
|homeostatic process|
|positive regulation of signal transduction|
|positive regulation of multicellular organismal process|
|small molecule metabolic process|
|positive regulation of cell communication|
|positive regulation of signaling|
|establishment of localization in cell|
|regulation of transport|
|vesicle-mediated transport|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp169|BH1 1μM R04 exp169]]|-3.29|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|-3.16|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-2.58|
|[[:results:exp180|Dynasore 10μM R04 exp180]]|-2.54|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|-2.47|
|[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|-2.14|
|[[:results:exp436|Dynasore 7μM R08 exp436]]|-1.98|
|[[:results:exp79|Q15 2.7μM R02 exp79]]|-1.98|
|[[:results:exp30|Rapamycin 10μM R00 exp30]]|-1.89|
|[[:results:exp6|Bortezomib 0.005μM R00 exp6]]|-1.8|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|-1.78|
|[[:results:exp389|PF-06409577 20μM R07 exp389]]|-1.7|
|[[:results:exp80|RO-3307 4.7μM R02 exp80]]|1.82|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|2.03|
|[[:results:exp443|SNS-032 15μM R08 exp443]]|2.04|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.14|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|2.32|
|[[:results:exp48|Mubritinib 0.2μM R01 exp48]]|2.57|
|[[:results:exp59|UMK57 1μM R01 exp59]]|2.59|
|[[:results:exp454|Bafilomycin-A1 0.009μM R08 exp454]]|2.7|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|6.6|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|7|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:l:ldlr|LDLR]]|0.742|
|[[:human genes:h:hsp90b1|HSP90B1]]|0.506|
|[[:human genes:a:abcd3|ABCD3]]|0.468|
|[[:human genes:p:pex1|PEX1]]|0.453|
|[[:human genes:p:pex3|PEX3]]|0.41|
|[[:human genes:f:fli1|FLI1]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 0/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|0/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|0/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|0/15|
|prostate|0/1|
|skin|0/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3214
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.89 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='LDLRAP1 Expression in NALM6 Cells: 4.89'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>